TABLE 5.
Function annotations of the PD-associated CLEC16A variants.
| Tools | rs6498169 | rs7200786 | ||
|---|---|---|---|---|
| HaploReg | ||||
| Enhancer histone marks a | 13 tissues | 13 tissues | ||
| DNase hypersensitivity a | 7 tissues | 3 tissues | ||
| Proteins bound | GATA2 | — | ||
| Motifs changed | HES1 | CCNT2; EBF | ||
| RegulomeDB | ||||
| Score | 1b | 4 | ||
| GTEx (eQTL) | ||||
| Genes affected | RMI2 | CLEC16A | RMI2 | |
| Tissues affected b | Cerebellum; cortex; frontal cortex; hypothalamus; nucleus accumbens; putamen; spinal cord | Amygdala; cerebellum; cerebellar hemisphere | Anterior cingulate; cerebellum; cortex; nucleus accumbens; putamen; spinal cord | |
| GTEx (sQTL) | ||||
| Genes affected | CLEC16A | CLEC16A | ||
| Tissues affected c | Testis | Testis | ||
a
Tissues were detailed in Supplementary Table S3.
b
Brain tissues were listed herein. Full tissue lists were shown in Supplementary Figures S1–S3.
c
Only testis data were available. Details were shown in Supplementary Figure S4.
eQTL, expression quantitative trait locus; PD, Parkinson’s disease; sQTL, splicing quantitative trait locus.